Canonical Allele Identifier: CA379371250

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6413199A>G (hg19) ; chr11:g.6391969A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391969A>G , CM000673.2:g.6391969A>G	GRCh38
NC_000011.9:g.6413199A>G , CM000673.1:g.6413199A>G	GRCh37
NC_000011.8:g.6369775A>G	NCBI36
NG_011780.1:g.6545A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.904A>G MANE Select	ENSP00000340409.4:p.Thr302Ala
ENST00000342245.8:c.904A>G	ENSP00000340409.4:p.Thr302Ala
ENST00000526280.1:c.93A>G
ENST00000527275.5:c.901A>G	ENSP00000435350.1:p.Thr301Ala
ENST00000530395.1:c.85A>G	ENSP00000431479.1:p.Thr29Ala
ENST00000531303.5:c.438+466A>G	ENSP00000432625.1:n.438+466A>G
ENST00000533123.5:c.904A>G	ENSP00000435950.1:p.Thr302Ala
ENST00000533196.1:n.375-37A>G
ENST00000534405.5:c.904A>G	ENSP00000434353.1:p.Thr302Ala
NM_000543.4:c.904A>G	NP_000534.3:p.Thr302Ala
NM_001007593.2:c.901A>G	NP_001007594.2:p.Thr301Ala
XM_005253075.3:c.904A>G	XP_005253132.1:p.Thr302Ala
XM_011520303.1:c.904A>G	XP_011518605.1:p.Thr302Ala
XM_011520304.1:c.904A>G	XP_011518606.1:p.Thr302Ala
XR_930886.1:n.1202A>G
NM_001318087.1:c.904A>G	NP_001305016.1:p.Thr302Ala
NM_001318088.1:c.-58A>G	NP_001305017.1:n.-58A>G
NM_001365135.1:c.904A>G	NP_001352064.1:p.Thr302Ala
NR_027400.2:n.1089A>G
NR_134502.1:n.623+466A>G
XM_011520304.2:c.904A>G	XP_011518606.1:p.Thr302Ala
XR_001747940.2:n.1029A>G
XR_002957158.1:n.1029A>G
NM_000543.5:c.904A>G MANE Select	NP_000534.3:p.Thr302Ala
NM_001007593.3:c.901A>G	NP_001007594.2:p.Thr301Ala
NM_001318087.2:c.904A>G	NP_001305016.1:p.Thr302Ala
NM_001318088.2:c.-58A>G	NP_001305017.1:n.-58A>G
NM_001365135.2:c.904A>G	NP_001352064.1:p.Thr302Ala
NR_027400.3:n.1029A>G
NR_134502.2:n.563+466A>G